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Summary Literature (0)
MIM:612164 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4; DEE4

Xenbase Genes: stxbp1

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011794 - obsolete Dravet syndrome
MONDO:0012812 - developmental and epileptic encephalopathy, 4
MONDO:0100062 - developmental and epileptic encephalopathy

Disease Ontology (DO):
DOID:0050709 - early infantile epileptic encephalopathy
DOID:0080436 - developmental and epileptic encephalopathy 4
DOID:2481 - infantile epileptic encephalopathy